A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562457



Internal ID16349866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:82512525..82583071hg38UCSC Ensembl
Innerchr13:83086660..83157206hg19UCSC Ensembl
Innerchr13:81984661..82055207hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3870547
hg1970547
hg1870547
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148517, nssv1148516, nssv816007
SamplesNINDS_212, NINDS_227
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562457
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer